Varaico: Literature-Extracted Genetic Variants

KLHL3

143 papers

RefSeq Summary

This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeat...

Pfam Domains

BTBaa 40–147UCSCBTB/POZ domain

BACKaa 152–254UCSCBTB And C-terminal Kelch

Kelch_1aa 290–334UCSCKelch motif

Kelch_1aa 336–381UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 3

HGNC Alias Symbol

KIAA1129

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017415.3

p.R527W

c.1579C>T

Surrounding Variants

1 paper

NM_017415.3

p.R527Q

c.1580G>A

8 papers

NM_017415.3

p.R528C

c.1582C>T

1 paper

NM_017415.3

p.R528L

c.1583G>T

47 papers

NM_017415.3

p.R528H

c.1583G>A

2 papers

NM_017415.3

p.N529H

c.1585A>C

8 papers

NM_017415.3

p.N529K

c.1587C>G

8 papers

NM_017415.3

p.N529K

c.1587C>A

1 paper

NM_017415.3

p.P512delFs

c.1535delG

1 paper

NM_017415.3

p.P512fs

c.1534_1535fs

2 papers

NM_017415.3

p.P501T

c.1501C>A

4 papers

NM_017415.3

p.G500V

c.1499G>T

1 paper

NM_017415.3

p.H498R

c.1493A>G